E2F1 G200S - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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E2F1 G200S

(E2F1 Gly200Ser)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • T @ chr20:32266134: 1.9% (207/10756) in EVS
  • T @ chr20:31729794: 0.8% (1/126) in GET-Evidence
  • Frequency shown in summary reports: 1.9% (207/10756)



huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr20:32266134


huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr20:32266134


Other external references

  • rs35385772
  • Score: 0 (benign)
    Web search results (12 hits -- see all)
  • E2F1 Gene - GeneCards | E2F1 Protein | E2F1 Antibody
    EntrezGene summary for E2F1: The protein encoded by this gene is a member of the E2F ... E2F1 Gene in genomic location: bands according to Ensembl, locations ...
  • Transcription factor E2F1 - Homo sapiens (Human)
    "Structure and partial genomic sequence of the human E2F1 gene. ... "Autoregulatory control of E2F1 expression in response to positive and negative regulators ...
  • UniProt: E2F1_HUMAN
    ... R.; RT "Autoregulatory control of E2F1 expression in response to positive and RT ... the Rb C-terminal domain bound to E2F1-DP1: a mechanism RT for phosphorylation ...
  • omega data
    ... A2M ENSG00000175899 ENST00000318602 4.6672 p>0.05 2.247 rs226405 12 9139500 ... A2M ENSG00000175899 ENST00000318602 0.0000 p>0.05 0.128 rs34470791 17 ...

Other in silico analyses

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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